Findings

The only known mutation immediately adjacent to the β-secretase site in APP, the Swedish mutation is actually a double mutation, resulting in a substitution of two amino acids, lysine (K) and methionine (M) to asparagine (N) and leucine (L). This well-known mutation has been reported in two large Swedish families who were found to be connected genealogically. Affected individuals generally presented first with memory loss and all met diagnostic criteria for Alzheimer's disease (Mullan et al., 1992).

Research Models

The Swedish mutation is commonly introduced into mouse models of AD because it strongly enhances overall Aβ production. Mice carrying this mutation, such as the Tg2576, J20, and 3xTg models, among many others, tend to accumulate high levels of Aβ and develop amyloid pathology.

Further Reading

News

Learn More

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.